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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-75385948-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75385948&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75385948,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000643780.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1371A>G",
"hgvs_p": "p.Glu457Glu",
"transcript": "NM_001379029.1",
"protein_id": "NP_001365958.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 624,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": "ENST00000643780.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1371A>G",
"hgvs_p": "p.Glu457Glu",
"transcript": "ENST00000643780.2",
"protein_id": "ENSP00000495760.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 624,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": "NM_001379029.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1371A>G",
"hgvs_p": "p.Glu457Glu",
"transcript": "ENST00000261415.12",
"protein_id": "ENSP00000261415.8",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 624,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1755A>G",
"hgvs_p": "p.Glu585Glu",
"transcript": "NM_001130105.1",
"protein_id": "NP_001123577.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 752,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1755A>G",
"hgvs_p": "p.Glu585Glu",
"transcript": "ENST00000405807.10",
"protein_id": "ENSP00000383996.4",
"transcript_support_level": 5,
"aa_start": 585,
"aa_end": null,
"aa_length": 752,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2049,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1371A>G",
"hgvs_p": "p.Glu457Glu",
"transcript": "NM_001379002.1",
"protein_id": "NP_001365931.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 624,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1371A>G",
"hgvs_p": "p.Glu457Glu",
"transcript": "NM_005713.3",
"protein_id": "NP_005704.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 624,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 8012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1371A>G",
"hgvs_p": "p.Glu457Glu",
"transcript": "ENST00000644072.2",
"protein_id": "ENSP00000494110.2",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 624,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 8012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1293A>G",
"hgvs_p": "p.Glu431Glu",
"transcript": "NM_001379004.1",
"protein_id": "NP_001365933.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 605,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 5178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1293A>G",
"hgvs_p": "p.Glu431Glu",
"transcript": "ENST00000642556.1",
"protein_id": "ENSP00000496016.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 605,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1293A>G",
"hgvs_p": "p.Glu431Glu",
"transcript": "NM_001379003.1",
"protein_id": "NP_001365932.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 598,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1293A>G",
"hgvs_p": "p.Glu431Glu",
"transcript": "NM_031361.3",
"protein_id": "NP_112729.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 598,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 7934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1293A>G",
"hgvs_p": "p.Glu431Glu",
"transcript": "ENST00000644445.1",
"protein_id": "ENSP00000496243.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 598,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1293A>G",
"hgvs_p": "p.Glu431Glu",
"transcript": "ENST00000645483.1",
"protein_id": "ENSP00000493563.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 598,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1293A>G",
"hgvs_p": "p.Glu431Glu",
"transcript": "ENST00000646511.1",
"protein_id": "ENSP00000495446.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 598,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1287A>G",
"hgvs_p": "p.Glu429Glu",
"transcript": "ENST00000642809.1",
"protein_id": "ENSP00000494804.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 596,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1287A>G",
"hgvs_p": "p.Glu429Glu",
"transcript": "ENST00000646713.1",
"protein_id": "ENSP00000494968.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 596,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1293A>G",
"hgvs_p": "p.Glu431Glu",
"transcript": "ENST00000644912.1",
"protein_id": "ENSP00000495172.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 584,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1200A>G",
"hgvs_p": "p.Glu400Glu",
"transcript": "ENST00000645866.1",
"protein_id": "ENSP00000494424.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 567,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1197A>G",
"hgvs_p": "p.Glu399Glu",
"transcript": "ENST00000643158.1",
"protein_id": "ENSP00000496462.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 566,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1068A>G",
"hgvs_p": "p.Glu356Glu",
"transcript": "ENST00000380494.10",
"protein_id": "ENSP00000369862.5",
"transcript_support_level": 2,
"aa_start": 356,
"aa_end": null,
"aa_length": 523,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 4654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1113A>G",
"hgvs_p": "p.Glu371Glu",
"transcript": "ENST00000644377.1",
"protein_id": "ENSP00000494810.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 520,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.714A>G",
"hgvs_p": "p.Glu238Glu",
"transcript": "ENST00000642488.1",
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],
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"bayesdelnoaf_score": -0.52,
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -21,
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"BP7",
"BA1"
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"verdict": "Benign",
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"effects": [
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],
"clinvar_disease": "CERT1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|CERT1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}